title: Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.
authors.affiliation: Department of Pathology, School of Medicine, Sapporo Medical University, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Yamaguchi
authors.forename: A
authors.initials: A
authors.lastname: Matsuura
authors.forename: S
authors.initials: S
authors.lastname: Arashima
authors.forename: Y
authors.initials: Y
authors.lastname: Kikuchi
authors.forename: K
authors.initials: K
authors.lastname: Kikuchi
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D019943:Amino Acid Substitution; D002352:Carrier Proteins / Q000235:genetics*; D027682:Cation Transport Proteins; D000073840:Copper-Transporting ATPases; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D018703:Founder Effect; D016368:Frameshift Mutation; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D017384:Sequence Deletion
chemical_list: D002352:Carrier Proteins; D027682:Cation Transport Proteins; D004247:DNA; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases